A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427279



Internal ID14927549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95025097..95025395hg38UCSC Ensembl
Innerchr13:95025096..95025396hg38UCSC Ensembl
Outerchr13:95024097..95026395hg38UCSC Ensembl
chr13:95677351..95677649hg19UCSC Ensembl
Innerchr13:95677350..95677650hg19UCSC Ensembl
Outerchr13:95676351..95678649hg19UCSC Ensembl
chr13:94475352..94475650hg18UCSC Ensembl
Innerchr13:94475651..94475351hg18UCSC Ensembl
Outerchr13:94474352..94476650hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689006
SamplesNA19239
Known GenesABCC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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